rs12745508

Organism: Homo sapiens

Alleles: G>A / G>C

Gene : Feature

None

p-value: Check p-value

Variation Type: SNV (Single Nucleotide Variation)

Frequency:

G==0251 (7533/29936,GnomAD)
G==0283 (8240/29116,TOPMED)
G==0203 (1015/5008,1000G)
G==0202 (779/3854,ALSPAC)
G==0193 (714/3708,TWINSUK)

Position: chr1:247454677 (GRCh38.p7) (1q44)

Phenotype: AD

Dataset:

GWASdb2

Publications: 1 publication(s)

Genomic View: See rs on genome

Enhancer: 406 Enhancers around

Promoter: 53 Promoters around

Variant Details Frequency Publications p-values eSNP meSNP

Genomic Coordinates

Sequence Name	Change(s)
GRCh38.p7 chr 1	NC_000001.11:g.247454677G>A
GRCh38.p7 chr 1	NC_000001.11:g.247454677G>C
GRCh37.p13 chr 1	NC_000001.10:g.247617979G>A
GRCh37.p13 chr 1	NC_000001.10:g.247617979G>C

Population Frequency

Study	Population	Group	Sample #	Ref Allele	Alt Allele
1000Genomes	African	Sub	1322	G=0.363	A=0.637
1000Genomes	American	Sub	694	G=0.260	A=0.74,
1000Genomes	East Asian	Sub	1008	G=0.062	A=0.938
1000Genomes	Europe	Sub	1006	G=0.204	A=0.796
1000Genomes	Global	Study-wide	5008	G=0.203	A=0.796
1000Genomes	South Asian	Sub	978	G=0.090	A=0.90,
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.202	A=0.798
The Genome Aggregation Database	African	Sub	8696	G=0.345	A=0.655
The Genome Aggregation Database	American	Sub	838	G=0.260	A=0.74,
The Genome Aggregation Database	East Asian	Sub	1616	G=0.053	A=0.947
The Genome Aggregation Database	Europe	Sub	18484	G=0.224	A=0.775
The Genome Aggregation Database	Global	Study-wide	29936	G=0.251	A=0.748
The Genome Aggregation Database	Other	Sub	302	G=0.250	A=0.75,
Trans-Omics for Precision Medicine	Global	Study-wide	29116	G=0.283	A=0.717
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.193	A=0.807

PMID	Title	Author	Journal
24277619	ALDH2 is associated to alcohol dependence and is the major genetic determinant of "daily maximum drinks" in a GWAS study of an isolated rural Chinese sample.	Quillen EE	Am J Med Genet B Neuropsychiatr Genet

P-Value

SNP ID	p-value	Traits	Study
rs12745508	0.00042	alcohol consumption (maxi-drinks)	24277619

eQTL of rs12745508 in Brain tissues (GTEx Analysis Release V7)

Position (v37)	eGene	GeneID	Variant	p-value	TSS	Tissue
There is no eQTL annotation for this SNP

meQTL of rs12745508 in Fetal Brain

Probe ID	Position	Gene	beta	p-value
There is no meQTL annotation for this SNP

Genomic View

Chromatin Interaction

There is no significant Hi-C chromatin interaction data for this SNP.

Enhancer Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance ( -/+ : Up/Downstream )
chr1	156305379	156305837	E067	-29652
chr1	156355332	156355812	E067	19843
chr1	156356036	156356230	E067	20547
chr1	156357306	156357364	E067	21817
chr1	156359001	156359051	E067	23512
chr1	156359269	156359370	E067	23780
chr1	156360201	156360622	E067	24712
chr1	156360627	156361104	E067	25138
chr1	156361234	156361298	E067	25745
chr1	156361563	156361626	E067	26074
chr1	156361847	156361906	E067	26358
chr1	156369140	156369207	E067	33651
chr1	156369277	156369475	E067	33788
chr1	156369680	156369851	E067	34191
chr1	156370129	156370808	E067	34640
chr1	156370900	156371275	E067	35411
chr1	156371403	156371555	E067	35914
chr1	156371575	156371917	E067	36086
chr1	156372169	156372402	E067	36680
chr1	156372573	156372698	E067	37084
chr1	156375859	156376027	E067	40370
chr1	156376074	156376573	E067	40585
chr1	156376880	156377041	E067	41391
chr1	156377071	156377185	E067	41582
chr1	156377245	156377396	E067	41756
chr1	156377955	156378057	E067	42466
chr1	156378171	156378221	E067	42682
chr1	156378802	156378901	E067	43313
chr1	156379023	156379312	E067	43534
chr1	156379355	156379619	E067	43866
chr1	156379639	156379690	E067	44150
chr1	156380099	156380153	E067	44610
chr1	156380178	156380283	E067	44689
chr1	156380799	156380902	E067	45310
chr1	156380903	156380953	E067	45414
chr1	156381259	156381361	E067	45770
chr1	156383230	156384077	E067	47741
chr1	156384108	156384533	E067	48619
chr1	156385319	156385438	E067	49830
chr1	156305379	156305837	E068	-29652
chr1	156341877	156342160	E068	6388
chr1	156354947	156355301	E068	19458
chr1	156355332	156355812	E068	19843
chr1	156356036	156356230	E068	20547
chr1	156356807	156356909	E068	21318
chr1	156357058	156357119	E068	21569
chr1	156357306	156357364	E068	21817
chr1	156359269	156359370	E068	23780
chr1	156360201	156360622	E068	24712
chr1	156360627	156361104	E068	25138
chr1	156361234	156361298	E068	25745
chr1	156361563	156361626	E068	26074
chr1	156361847	156361906	E068	26358
chr1	156362014	156362073	E068	26525
chr1	156362327	156362899	E068	26838
chr1	156362978	156363153	E068	27489
chr1	156364139	156364302	E068	28650
chr1	156369680	156369851	E068	34191
chr1	156370129	156370808	E068	34640
chr1	156370900	156371275	E068	35411
chr1	156371403	156371555	E068	35914
chr1	156371575	156371917	E068	36086
chr1	156372169	156372402	E068	36680
chr1	156372573	156372698	E068	37084
chr1	156375552	156375821	E068	40063
chr1	156375859	156376027	E068	40370
chr1	156376074	156376573	E068	40585
chr1	156376880	156377041	E068	41391
chr1	156377071	156377185	E068	41582
chr1	156377245	156377396	E068	41756
chr1	156377955	156378057	E068	42466
chr1	156378171	156378221	E068	42682
chr1	156378802	156378901	E068	43313
chr1	156379023	156379312	E068	43534
chr1	156379355	156379619	E068	43866
chr1	156379639	156379690	E068	44150
chr1	156380099	156380153	E068	44610
chr1	156380178	156380283	E068	44689
chr1	156380799	156380902	E068	45310
chr1	156380903	156380953	E068	45414
chr1	156381259	156381361	E068	45770
chr1	156383230	156384077	E068	47741
chr1	156384108	156384533	E068	48619
chr1	156385319	156385438	E068	49830
chr1	156305379	156305837	E069	-29652
chr1	156354947	156355301	E069	19458
chr1	156355332	156355812	E069	19843
chr1	156356036	156356230	E069	20547
chr1	156356807	156356909	E069	21318
chr1	156357058	156357119	E069	21569
chr1	156359001	156359051	E069	23512
chr1	156359269	156359370	E069	23780
chr1	156360201	156360622	E069	24712
chr1	156360627	156361104	E069	25138
chr1	156361234	156361298	E069	25745
chr1	156361563	156361626	E069	26074
chr1	156361847	156361906	E069	26358
chr1	156369140	156369207	E069	33651
chr1	156369277	156369475	E069	33788
chr1	156369680	156369851	E069	34191
chr1	156370129	156370808	E069	34640
chr1	156370900	156371275	E069	35411
chr1	156371403	156371555	E069	35914
chr1	156371575	156371917	E069	36086
chr1	156372169	156372402	E069	36680
chr1	156372573	156372698	E069	37084
chr1	156375552	156375821	E069	40063
chr1	156375859	156376027	E069	40370
chr1	156376074	156376573	E069	40585
chr1	156376880	156377041	E069	41391
chr1	156377071	156377185	E069	41582
chr1	156377245	156377396	E069	41756
chr1	156377955	156378057	E069	42466
chr1	156378171	156378221	E069	42682
chr1	156378802	156378901	E069	43313
chr1	156379023	156379312	E069	43534
chr1	156379355	156379619	E069	43866
chr1	156379639	156379690	E069	44150
chr1	156380099	156380153	E069	44610
chr1	156381259	156381361	E069	45770
chr1	156383230	156384077	E069	47741
chr1	156384108	156384533	E069	48619
chr1	156385319	156385438	E069	49830
chr1	156329181	156329255	E070	-6234
chr1	156329823	156330011	E070	-5478
chr1	156352766	156353118	E070	17277
chr1	156355332	156355812	E070	19843
chr1	156356036	156356230	E070	20547
chr1	156356807	156356909	E070	21318
chr1	156357058	156357119	E070	21569
chr1	156357306	156357364	E070	21817
chr1	156362327	156362899	E070	26838
chr1	156362978	156363153	E070	27489
chr1	156364139	156364302	E070	28650
chr1	156364308	156364358	E070	28819
chr1	156364851	156365150	E070	29362
chr1	156369140	156369207	E070	33651
chr1	156369277	156369475	E070	33788
chr1	156369680	156369851	E070	34191
chr1	156373760	156373849	E070	38271
chr1	156373863	156374020	E070	38374
chr1	156374102	156374168	E070	38613
chr1	156374206	156374274	E070	38717
chr1	156374277	156374436	E070	38788
chr1	156374836	156375071	E070	39347
chr1	156375073	156375146	E070	39584
chr1	156375234	156375327	E070	39745
chr1	156375552	156375821	E070	40063
chr1	156305379	156305837	E071	-29652
chr1	156341373	156341652	E071	5884
chr1	156341877	156342160	E071	6388
chr1	156354947	156355301	E071	19458
chr1	156355332	156355812	E071	19843
chr1	156356036	156356230	E071	20547
chr1	156356807	156356909	E071	21318
chr1	156357058	156357119	E071	21569
chr1	156357306	156357364	E071	21817
chr1	156360201	156360622	E071	24712
chr1	156360627	156361104	E071	25138
chr1	156361234	156361298	E071	25745
chr1	156361563	156361626	E071	26074
chr1	156361847	156361906	E071	26358
chr1	156362014	156362073	E071	26525
chr1	156362327	156362899	E071	26838
chr1	156362978	156363153	E071	27489
chr1	156364139	156364302	E071	28650
chr1	156364308	156364358	E071	28819
chr1	156369140	156369207	E071	33651
chr1	156369277	156369475	E071	33788
chr1	156369680	156369851	E071	34191
chr1	156370129	156370808	E071	34640
chr1	156370900	156371275	E071	35411
chr1	156371403	156371555	E071	35914
chr1	156371575	156371917	E071	36086
chr1	156372169	156372402	E071	36680
chr1	156372573	156372698	E071	37084
chr1	156375234	156375327	E071	39745
chr1	156375552	156375821	E071	40063
chr1	156375859	156376027	E071	40370
chr1	156376074	156376573	E071	40585
chr1	156376880	156377041	E071	41391
chr1	156377071	156377185	E071	41582
chr1	156377245	156377396	E071	41756
chr1	156377955	156378057	E071	42466
chr1	156378171	156378221	E071	42682
chr1	156378802	156378901	E071	43313
chr1	156379023	156379312	E071	43534
chr1	156379355	156379619	E071	43866
chr1	156379639	156379690	E071	44150
chr1	156380099	156380153	E071	44610
chr1	156380178	156380283	E071	44689
chr1	156380799	156380902	E071	45310
chr1	156380903	156380953	E071	45414
chr1	156381259	156381361	E071	45770
chr1	156384108	156384533	E071	48619
chr1	156385319	156385438	E071	49830
chr1	156305379	156305837	E072	-29652
chr1	156352766	156353118	E072	17277
chr1	156354947	156355301	E072	19458
chr1	156355332	156355812	E072	19843
chr1	156356036	156356230	E072	20547
chr1	156356807	156356909	E072	21318
chr1	156357058	156357119	E072	21569
chr1	156357306	156357364	E072	21817
chr1	156359269	156359370	E072	23780
chr1	156360201	156360622	E072	24712
chr1	156360627	156361104	E072	25138
chr1	156361234	156361298	E072	25745
chr1	156361563	156361626	E072	26074
chr1	156361847	156361906	E072	26358
chr1	156362014	156362073	E072	26525
chr1	156362327	156362899	E072	26838
chr1	156362978	156363153	E072	27489
chr1	156364139	156364302	E072	28650
chr1	156369140	156369207	E072	33651
chr1	156369277	156369475	E072	33788
chr1	156369680	156369851	E072	34191
chr1	156370129	156370808	E072	34640
chr1	156370900	156371275	E072	35411
chr1	156371403	156371555	E072	35914
chr1	156371575	156371917	E072	36086
chr1	156372169	156372402	E072	36680
chr1	156372573	156372698	E072	37084
chr1	156373098	156373176	E072	37609
chr1	156375552	156375821	E072	40063
chr1	156375859	156376027	E072	40370
chr1	156376074	156376573	E072	40585
chr1	156376880	156377041	E072	41391
chr1	156377071	156377185	E072	41582
chr1	156377245	156377396	E072	41756
chr1	156377955	156378057	E072	42466
chr1	156378171	156378221	E072	42682
chr1	156378802	156378901	E072	43313
chr1	156379023	156379312	E072	43534
chr1	156379355	156379619	E072	43866
chr1	156379639	156379690	E072	44150
chr1	156380099	156380153	E072	44610
chr1	156380178	156380283	E072	44689
chr1	156380799	156380902	E072	45310
chr1	156380903	156380953	E072	45414
chr1	156381259	156381361	E072	45770
chr1	156383230	156384077	E072	47741
chr1	156384108	156384533	E072	48619
chr1	156385319	156385438	E072	49830
chr1	156305379	156305837	E073	-29652
chr1	156354947	156355301	E073	19458
chr1	156355332	156355812	E073	19843
chr1	156356036	156356230	E073	20547
chr1	156357058	156357119	E073	21569
chr1	156357306	156357364	E073	21817
chr1	156359001	156359051	E073	23512
chr1	156359269	156359370	E073	23780
chr1	156360201	156360622	E073	24712
chr1	156360627	156361104	E073	25138
chr1	156361234	156361298	E073	25745
chr1	156361563	156361626	E073	26074
chr1	156361847	156361906	E073	26358
chr1	156369140	156369207	E073	33651
chr1	156369277	156369475	E073	33788
chr1	156369680	156369851	E073	34191
chr1	156370129	156370808	E073	34640
chr1	156370900	156371275	E073	35411
chr1	156371403	156371555	E073	35914
chr1	156371575	156371917	E073	36086
chr1	156372169	156372402	E073	36680
chr1	156372573	156372698	E073	37084
chr1	156375234	156375327	E073	39745
chr1	156375552	156375821	E073	40063
chr1	156375859	156376027	E073	40370
chr1	156376074	156376573	E073	40585
chr1	156376880	156377041	E073	41391
chr1	156377071	156377185	E073	41582
chr1	156377245	156377396	E073	41756
chr1	156377955	156378057	E073	42466
chr1	156378171	156378221	E073	42682
chr1	156378802	156378901	E073	43313
chr1	156379023	156379312	E073	43534
chr1	156379355	156379619	E073	43866
chr1	156379639	156379690	E073	44150
chr1	156380099	156380153	E073	44610
chr1	156380178	156380283	E073	44689
chr1	156380799	156380902	E073	45310
chr1	156380903	156380953	E073	45414
chr1	156381259	156381361	E073	45770
chr1	156383230	156384077	E073	47741
chr1	156384108	156384533	E073	48619
chr1	156385319	156385438	E073	49830
chr1	156341877	156342160	E074	6388
chr1	156354947	156355301	E074	19458
chr1	156355332	156355812	E074	19843
chr1	156356807	156356909	E074	21318
chr1	156357058	156357119	E074	21569
chr1	156357306	156357364	E074	21817
chr1	156359001	156359051	E074	23512
chr1	156359269	156359370	E074	23780
chr1	156360201	156360622	E074	24712
chr1	156360627	156361104	E074	25138
chr1	156361234	156361298	E074	25745
chr1	156361563	156361626	E074	26074
chr1	156361847	156361906	E074	26358
chr1	156362014	156362073	E074	26525
chr1	156362327	156362899	E074	26838
chr1	156362978	156363153	E074	27489
chr1	156364139	156364302	E074	28650
chr1	156364308	156364358	E074	28819
chr1	156369140	156369207	E074	33651
chr1	156369277	156369475	E074	33788
chr1	156369680	156369851	E074	34191
chr1	156370129	156370808	E074	34640
chr1	156370900	156371275	E074	35411
chr1	156371403	156371555	E074	35914
chr1	156371575	156371917	E074	36086
chr1	156372169	156372402	E074	36680
chr1	156372573	156372698	E074	37084
chr1	156373760	156373849	E074	38271
chr1	156373863	156374020	E074	38374
chr1	156374102	156374168	E074	38613
chr1	156375234	156375327	E074	39745
chr1	156375552	156375821	E074	40063
chr1	156375859	156376027	E074	40370
chr1	156376074	156376573	E074	40585
chr1	156376880	156377041	E074	41391
chr1	156377071	156377185	E074	41582
chr1	156377245	156377396	E074	41756
chr1	156377955	156378057	E074	42466
chr1	156378171	156378221	E074	42682
chr1	156378802	156378901	E074	43313
chr1	156379023	156379312	E074	43534
chr1	156379355	156379619	E074	43866
chr1	156379639	156379690	E074	44150
chr1	156380099	156380153	E074	44610
chr1	156380178	156380283	E074	44689
chr1	156380903	156380953	E074	45414
chr1	156381259	156381361	E074	45770
chr1	156383230	156384077	E074	47741
chr1	156384108	156384533	E074	48619
chr1	156385319	156385438	E074	49830
chr1	156355332	156355812	E081	19843
chr1	156356036	156356230	E081	20547
chr1	156359001	156359051	E081	23512
chr1	156359269	156359370	E081	23780
chr1	156360201	156360622	E081	24712
chr1	156360627	156361104	E081	25138
chr1	156361234	156361298	E081	25745
chr1	156361563	156361626	E081	26074
chr1	156361847	156361906	E081	26358
chr1	156362014	156362073	E081	26525
chr1	156362327	156362899	E081	26838
chr1	156362978	156363153	E081	27489
chr1	156369140	156369207	E081	33651
chr1	156369277	156369475	E081	33788
chr1	156369680	156369851	E081	34191
chr1	156370129	156370808	E081	34640
chr1	156370900	156371275	E081	35411
chr1	156371403	156371555	E081	35914
chr1	156371575	156371917	E081	36086
chr1	156372169	156372402	E081	36680
chr1	156372573	156372698	E081	37084
chr1	156374836	156375071	E081	39347
chr1	156375073	156375146	E081	39584
chr1	156375234	156375327	E081	39745
chr1	156375552	156375821	E081	40063
chr1	156375859	156376027	E081	40370
chr1	156376074	156376573	E081	40585
chr1	156376880	156377041	E081	41391
chr1	156377071	156377185	E081	41582
chr1	156377245	156377396	E081	41756
chr1	156377955	156378057	E081	42466
chr1	156378171	156378221	E081	42682
chr1	156378802	156378901	E081	43313
chr1	156379023	156379312	E081	43534
chr1	156379355	156379619	E081	43866
chr1	156379639	156379690	E081	44150
chr1	156380099	156380153	E081	44610
chr1	156380178	156380283	E081	44689
chr1	156380799	156380902	E081	45310
chr1	156380903	156380953	E081	45414
chr1	156381259	156381361	E081	45770
chr1	156383230	156384077	E081	47741
chr1	156384108	156384533	E081	48619
chr1	156385319	156385438	E081	49830
chr1	156354947	156355301	E082	19458
chr1	156355332	156355812	E082	19843
chr1	156356036	156356230	E082	20547
chr1	156359001	156359051	E082	23512
chr1	156359269	156359370	E082	23780
chr1	156361234	156361298	E082	25745
chr1	156361563	156361626	E082	26074
chr1	156361847	156361906	E082	26358
chr1	156362014	156362073	E082	26525
chr1	156362327	156362899	E082	26838
chr1	156362978	156363153	E082	27489
chr1	156369140	156369207	E082	33651
chr1	156369277	156369475	E082	33788
chr1	156369680	156369851	E082	34191
chr1	156370129	156370808	E082	34640
chr1	156370900	156371275	E082	35411
chr1	156371403	156371555	E082	35914
chr1	156371575	156371917	E082	36086
chr1	156373098	156373176	E082	37609
chr1	156373760	156373849	E082	38271
chr1	156375552	156375821	E082	40063
chr1	156375859	156376027	E082	40370
chr1	156378802	156378901	E082	43313
chr1	156380099	156380153	E082	44610
chr1	156380178	156380283	E082	44689

Promoter Annotation (GRCh37.p13)

Chromosome	Start	End	Region	Distance(-/+:Up/Downstream)
chr1	156306959	156307039	E067	-28450
chr1	156307219	156307466	E067	-28023
chr1	156307469	156308799	E067	-26690
chr1	156338873	156339231	E067	3384
chr1	156339301	156339351	E067	3812
chr1	156306959	156307039	E068	-28450
chr1	156307219	156307466	E068	-28023
chr1	156307469	156308799	E068	-26690
chr1	156338873	156339231	E068	3384
chr1	156339301	156339351	E068	3812
chr1	156358065	156358716	E068	22576
chr1	156306959	156307039	E069	-28450
chr1	156307219	156307466	E069	-28023
chr1	156307469	156308799	E069	-26690
chr1	156338873	156339231	E069	3384
chr1	156339301	156339351	E069	3812
chr1	156358065	156358716	E069	22576
chr1	156306959	156307039	E070	-28450
chr1	156307219	156307466	E070	-28023
chr1	156307469	156308799	E070	-26690
chr1	156338725	156338800	E070	3236
chr1	156358065	156358716	E070	22576
chr1	156306959	156307039	E071	-28450
chr1	156307219	156307466	E071	-28023
chr1	156307469	156308799	E071	-26690
chr1	156309084	156309234	E071	-26255
chr1	156338873	156339231	E071	3384
chr1	156339301	156339351	E071	3812
chr1	156306959	156307039	E072	-28450
chr1	156307219	156307466	E072	-28023
chr1	156307469	156308799	E072	-26690
chr1	156309084	156309234	E072	-26255
chr1	156338873	156339231	E072	3384
chr1	156339301	156339351	E072	3812
chr1	156358065	156358716	E072	22576
chr1	156306959	156307039	E073	-28450
chr1	156307219	156307466	E073	-28023
chr1	156307469	156308799	E073	-26690
chr1	156338873	156339231	E073	3384
chr1	156339301	156339351	E073	3812
chr1	156358065	156358716	E073	22576
chr1	156306959	156307039	E074	-28450
chr1	156307219	156307466	E074	-28023
chr1	156307469	156308799	E074	-26690
chr1	156338873	156339231	E074	3384
chr1	156339301	156339351	E074	3812
chr1	156307219	156307466	E081	-28023
chr1	156307469	156308799	E081	-26690
chr1	156339301	156339351	E081	3812
chr1	156306959	156307039	E082	-28450
chr1	156307219	156307466	E082	-28023
chr1	156307469	156308799	E082	-26690
chr1	156358065	156358716	E082	22576